Document Detail

Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.
MedLine Citation:
PMID:  18978660     Owner:  NLM     Status:  MEDLINE    
Macrocephaly-cutis marmorata telangiectatica congenita was first identified as a distinct syndrome in 1997. Since then there have been more than 10 further reports of the condition, several also comprising reviews of the earlier literature. Virtually all reported patients, however, are young children, and there is very little information about the natural evolution of the condition in adolescence and later life. This report describes a patient with features of macrocephaly-cutis marmorata telangiectatica congenita, though mildly affected, and her progression into teenage life. Her mild problems, many of which have largely resolved, demonstrate a possible more optimistic view of the condition than is currently held. The difficulties in making the diagnosis in an adult patient are also discussed.
Natalie L E Canham; Susan E Holder
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  17     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-11-03     Completed Date:  2009-09-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  279-81     Citation Subset:  IM    
Kennedy-Galton Centre, North West Thames Regional Genetics Service, The North West London Hospitals NHS Trust, Middlesex, UK.
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MeSH Terms
Child, Preschool
Peripheral Vascular Diseases* / congenital,  diagnosis,  pathology,  physiopathology

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